Hematopoietic neoplasms of bone

2022-03-04   Judith VMG Bovée , Paola Dal Cin 

1.Leiden University Medical Center, Leiden, The Netherlands
2.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)



Discriminating lymphoma/leukemia from small, blue, round cell tumors or some non-sarcoma bone lesions may also be problematic correlation with the clinical and radiologic feature of the lesion, and ancillary techniques,  as immunohistochemical and molecular genetic analyses,  are useful tools to characterize  these lesions. 1   Histiocytic disorders as Langerhans cell histiocytosis and Erdheim-Chester disease and ,sometime Rosai-Dorfman disease, are caused by mutations of the MAPK pathway, most often BRAFV600E, lending to the use of targeted-therapy (MEK and BRAF inhibitors) trial.2

Hematopoietic neoplasms of bone neoplasms Genetic event(s)
Solitary plasmacytoma of bone Genetic aberrations similar to plasma cell myeloma. See WHO2017 Classification of Classification of Tumour of Haematopietic and Lymphoid Tissues
Primary non-Hodgkin lymphoma of bone 80% of the cases are diffuse large cell lympoma. See WHO2017 Classification of Tumour of Haematopietic and Lymphoid Tissues
Langerhans cell histiocytosis Activating mutation of the MAPK pathway (85%) mainly BRAF V600E (p.Val60oGlu) and MAP2K1. 2,3
Erdheim-Chester disease Activating mutation of the SGSM3 pathway, mainly BRAF V600E (~50%) 4 or ARAF,NRAS, KRAS or MAP2K1.2,5
Rosai-Dorfman disease Mutually exclusive missense mutations in NRAS, KRAS, MAP2K1,ARAF and BRAF (~49%) in sporadic form, and germline mutation in SLC29A3 and FAS. 2,6


Reference NumberPubmed IDLast YearTitleAuthors
1313529902019Bone Pathology for Hematopathologists.Peker D et al
2311157242019Systemic Histiocytosis (Langerhans Cell Histiocytosis, Erdheim-Chester Disease, Destombes-Rosai-Dorfman Disease): from Oncogenic Mutations to Inflammatory Disorders.Papo M et al
3301573972018Langerhans-Cell Histiocytosis.Allen CE et al
4228795392012High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.Haroche J et al
5265668752016Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms.Diamond EL et al
6297204852018Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease.Abla O et al

External Links


Judith VMG Bovée ; Paola Dal Cin

Hematopoietic neoplasms of bone

Atlas Genet Cytogenet Oncol Haematol. 2022-03-04

Online version: http://atlasgeneticsoncology.org/solid-tumor/208931/hematopoietic-neoplasms-of-bone